Atp6v0a4 ATPase, H+ transporting, lysosomal V0 subunit A4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Atp6v0a4provided by MGI
Official Full Name: ATPase, H+ transporting, lysosomal V0 subunit A4provided by MGI
Primary source: MGI:MGI:2153480
See related: Ensembl:ENSMUSG00000038600 AllianceGenome:MGI:2153480
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: a4; Atp6n1b
Summary: Predicted to enable ATPase binding activity and P-type proton-exporting transporter activity. Involved in synaptic vesicle lumen acidification. Acts upstream of or within proton transmembrane transport. Located in apical plasma membrane; brush border; and endosome. Part of vacuolar proton-transporting V-type ATPase complex. Is expressed in several structures, including alimentary system; genitourinary system; musculoskeletal system; respiratory system; and sensory organ. Used to study renal tubular acidosis. Human ortholog(s) of this gene implicated in renal tubular acidosis. Orthologous to human ATP6V0A4 (ATPase H+ transporting V0 subunit a4). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in kidney adult (RPKM 61.8) and placenta adult (RPKM 4.2) See more
Orthologs: human all
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Genomic context

Location:: 6 B1; 6 17.5 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (38025418..38101521, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (38048483..38124586, complement)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Isoform a4 of the vacuolar ATPase a subunit promotes 4T1-12B breast cancer cell-dependent tumor growth and metastasis in vivo.
Title: Isoform a4 of the vacuolar ATPase a subunit promotes 4T1-12B breast cancer cell-dependent tumor growth and metastasis in vivo.
The identification of novel locations for the a4 subunit and other tissue-restricted subunits increases the range of unique subunit combinations making up the proton pump.
Title: Extra-renal locations of the a4 subunit of H(+)ATPase.
The first detailed analysis of the structure and function of the auditory system in Atp6v0a4(-/-) knockout mice, is reported.
Title: Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.
V-ATPase a4 knockout mice suffer not only from severe acidosis but also from proximal tubule dysfunction with defective endocytic trafficking, proteinuria, phosphaturia and accumulation of lysosomal material.
Title: A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule.
Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype
Title: Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.
Data suggestthat Foxi1 is necessary for expression of at least four subunits in three different epithelia and most likely is a major determinant for proper assembly of a functional vacuolar H(+)-ATPase complex at these locations.
Title: The forkhead transcription factor Foxi1 is a master regulator of vacuolar H-ATPase proton pump subunits in the inner ear, kidney and epididymis.
Immunolocalization demonstrated expression of all 'a' subunits in the proximal tubule and in the intercalated cells of the collecting system. PCR detected mRNAs encoding all four 'a' isoforms with a relative abundance in the following order: a4>a2=a1>a3.
Title: Differential localization of vacuolar H+-ATPases containing a1, a2, a3, or a4 (ATP6V0A1-4) subunit isoforms along the nephron.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (1)
Gene trapped (1)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Atp6v0a4 (e-PCR), detects polymorphism
- UniSTS:516096

Atp6v0a4 (e-PCR), detects polymorphism
- UniSTS:527261

Atp6v0a4 (e-PCR), detects polymorphism
- UniSTS:527048

Atp6v0a4 (e-PCR), detects polymorphism
- UniSTS:516094

Atp6v0a4 (e-PCR), detects polymorphism
- UniSTS:516095

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase binding	IEA Inferred from Electronic Annotation more info
enables ATPase binding	ISO Inferred from Sequence Orthology more info
enables P-type proton-exporting transporter activity	ISA Inferred from Sequence Alignment more info	PubMed
enables proton-transporting ATPase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in ossification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proton transmembrane transport	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within proton transmembrane transport	ISA Inferred from Sequence Alignment more info	PubMed
involved_in proton transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of pH	IEA Inferred from Electronic Annotation more info
involved_in regulation of pH	ISO Inferred from Sequence Orthology more info
involved_in renal tubular secretion	IEA Inferred from Electronic Annotation more info
involved_in renal tubular secretion	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle lumen acidification	EXP Inferred from Experiment more info	PubMed
involved_in synaptic vesicle lumen acidification	IDA Inferred from Direct Assay more info	PubMed
involved_in synaptic vesicle lumen acidification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vacuolar acidification	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
located_in apical part of cell	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in brush border membrane	IEA Inferred from Electronic Annotation more info
located_in brush border membrane	ISO Inferred from Sequence Orthology more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of vacuolar proton-transporting V-type ATPase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of vacuolar proton-transporting V-type ATPase complex	ISA Inferred from Sequence Alignment more info	PubMed
part_of vacuolar proton-transporting V-type ATPase complex	ISO Inferred from Sequence Orthology more info
part_of vacuolar proton-transporting V-type ATPase, V0 domain	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: V-type proton ATPase 116 kDa subunit a 4

Names: ATPase, H+ transporting, lysosomal (vacuolar proton pump) noncatalytic accessory protein 1B; V-ATPase 116 kDa; V-ATPase 116 kDa isoform a 4; V-ATPase alpha 4; V-type proton ATPase 116 kDa subunit a; vacuolar proton translocating ATPase 100 kDa a4 subunit

NP_536715.3

EC 7.1.2.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_080467.3 → NP_536715.3 V-type proton ATPase 116 kDa subunit a 4

See identical proteins and their annotated locations for NP_536715.3

Status: VALIDATED

Source sequence(s)

AK143790, BC046979

Consensus CDS

CCDS20010.1

UniProtKB/Swiss-Prot

Q8CJ79, Q920B5, Q920R6

Related

ENSMUSP00000039381.5, ENSMUST00000040259.8

Conserved Domains (2) summary

COG1269
Location:28 → 824

NtpI; Archaeal/vacuolar-type H+-ATPase subunit I/STV1 [Energy production and conversion]

pfam01496
Location:28 → 823

V_ATPase_I; V-type ATPase 116kDa subunit family